Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
FUT8_chr14_65407730_65749121	65498449	AGAAACTA others(31): Show AGAAACTAGGTCACCAGGGTTTGTTGTGTCATTGTTAAT	A A	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	372	0.0027	-38	c.-22 others(59): Show c.-228+42732_-228+42769delGAAACTAGGTCACCAGGGTTTGTT GTGTCATTGTTAAT	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	2/10			chr14	TogoVar
FUT8_chr14_65407730_65749121	65611185	ACACACAC others(31): Show ACACACACACACACGCGCGCGCGCGCGCGCGCGCGCGCG	A A	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	372	0.0027	-38	c.204 others(55): Show c.204-4779_204-4742delGCGCGCGCGCGCGCGCGCGCGCGCGCAC ACACACACAC	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65611203	GCGCGCGC others(31): Show GCGCGCGCGCGCGCGCGCGCGCACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0265 a0001c0001t0002g0265	1	369	0.0027	-38	c.204 others(55): Show c.204-4773_204-4736delGCGCGCGCGCGCGCGCGCGCACACACAC ACACACACAC	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65611209	GCGCGCGC others(31): Show GCGCGCGCGCGCGCGCACACACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0236 a0001c0001t0003g0236	1	256	0.0039	-38	c.204 others(55): Show c.204-4767_204-4730delGCGCGCGCGCGCGCACACACACACACAC ACACACACAC	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65611211	GCGCGCGC others(31): Show GCGCGCGCGCGCGCACACACACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 NA18970.hp1 NA18988.hp2 HG00642.hp2 NA18970.hp1 NA18988.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0001c0002t0001 a0002c0003t0001	a0001c0002t0001g0301 a0002c0003t0001g0348 a0002c0003t0001g0352 a0001c0002t0001g0301 a0002c0003t0001g0348 a0002c0003t0001g0352	3	299	0.0100	-38	c.204 others(55): Show c.204-4765_204-4728delGCGCGCGCGCGCACACACACACACACAC ACACACACAC	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65611213	GCGCGCGC others(31): Show GCGCGCGCGCGCACACACACACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00673.hp1 HG00621.hp2 HG00673.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0292 a0002c0003t0001g0343 a0002c0003t0001g0292 a0002c0003t0001g0343	2	343	0.0058	-38	c.204 others(55): Show c.204-4763_204-4726delGCGCGCGCGCACACACACACACACACAC ACACACACAC	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FZD10_chr12_130157464_130170740	130157754	TATACACA others(31): Show TATACACACACACATACACACACACATATATACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00544.hp1 others(83): Show HG00280.hp1 HG00323.hp1 HG00544.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG01167.hp1 HG01169.hp2 HG01243.hp1 HG01258.hp1 HG01361.hp1 HG01433.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02027.hp2 HG02071.hp2 HG02074.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02293.hp1 HG02647.hp2 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02976.hp2 HG03041.hp2 HG03195.hp1 HG03195.hp2 HG03471.hp1 HG03491.hp1 HG03540.hp1 HG03540.hp2 NA18906.hp2 NA18941.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18957.hp1 NA18959.hp1 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18975.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18989.hp2 NA18990.hp1 NA18993.hp1 NA18994.hp1 NA18999.hp2 NA19000.hp1 NA19005.hp1 NA19005.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19058.hp1 NA19065.hp2 NA19068.hp1 NA19074.hp1 NA19076.hp1 NA19079.hp1 NA19087.hp2 NA19240.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0004c0009	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(10): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0013 a0001c0001t0019 a0001c0002t0001 a0001c0002t0010 a0001c0002t0020 a0001c0002t0024 a0001c0004t0003 a0004c0009t0003	a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0005g0000 others(10): Show a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0005g0000 a0001c0001t0006g0000 a0001c0001t0008g0000 a0001c0001t0013g0000 a0001c0001t0019g0000 a0001c0002t0001g0000 a0001c0002t0010g0000 a0001c0002t0020g0000 a0001c0002t0024g0000 a0001c0004t0003g0000 a0004c0009t0003g0000	86	448	0.1920	-38	c.-51 others(49): Show c.-5188_-5151delATACACACACACATACACACACACATATATACAC ACAC	FZD10	ENSG00000111432.5	transcript	ENST00000229030.5	protein_coding		4709		chr12	TogoVar
GAB2_chr11_78210293_78422820	78216566	TTGGTAGT others(31): Show TTGGTAGTTACCAGAATAGGGGGCTGGAAGGAAGCCTCC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp2 HG02809.hp2 HG03540.hp1 others(1): Show HG00639.hp2 HG02809.hp2 HG03540.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0106 a0001c0001t0012g0237 a0001c0001t0012g0238 others(1): Show a0001c0001t0012g0106 a0001c0001t0012g0237 a0001c0001t0012g0238 a0001c0001t0012g0239	4	286	0.0140	-38	c.26 others(49): Show c.2668_*2705delGGAGGCTTCCTTCCAGCCCCCTATTCTGGTAACT ACCA	GAB2	ENSG00000033327.13	transcript	ENST00000361507.5	protein_coding	10/10	2668		chr11	TogoVar
GABBR2_chr9_98283109_98713935	98436348	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03139.hp2 HG03209.hp2 others(2): Show HG02895.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0007 others(1): Show a0001c0001 a0001c0003 a0001c0007 a0002c0004	a0001c0001t0004 a0001c0001t0013 a0001c0003t0013 others(2): Show a0001c0001t0004 a0001c0001t0013 a0001c0003t0013 a0001c0007t0015 a0002c0004t0007	a0001c0001t0004g0045 a0001c0001t0013g0035 a0001c0003t0013g0041 others(2): Show a0001c0001t0004g0045 a0001c0001t0013g0035 a0001c0003t0013g0041 a0001c0007t0015g0032 a0002c0004t0007g0101	5	83	0.0602	-38	c.123 others(59): Show c.1236+17595_1236+17632delATATATATATATATATATATATAT ATATATATATATAT	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	7/18			chr9	TogoVar
GABPB1_chr15_50270389_50360198	50337063	GTATATGT others(31): Show GTATATGTGTGTGTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00735.hp1 HG00738.hp2 others(26): Show HG00280.hp2 HG00735.hp1 HG00738.hp2 HG01106.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01361.hp1 HG01433.hp2 HG01517.hp2 HG02145.hp1 HG02257.hp2 HG02293.hp2 HG02559.hp1 HG02683.hp2 HG03209.hp1 HG03688.hp1 HG03710.hp1 HG03927.hp2 HG04115.hp2 NA19030.hp2 NA19043.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0012	a0001c0001t0001g0304 a0001c0001t0004g0006 a0001c0001t0004g0007 others(24): Show a0001c0001t0001g0304 a0001c0001t0004g0006 a0001c0001t0004g0007 a0001c0001t0004g0262 a0001c0001t0004g0266 a0001c0001t0004g0269 a0001c0001t0004g0273 a0001c0001t0004g0274 a0001c0001t0004g0275 a0001c0001t0004g0276 a0001c0001t0004g0277 a0001c0001t0004g0285 a0001c0001t0004g0286 a0001c0001t0004g0287 a0001c0001t0004g0291 a0001c0001t0004g0292 a0001c0001t0004g0293 a0001c0001t0004g0296 a0001c0001t0004g0297 a0001c0001t0004g0298 a0001c0001t0004g0299 a0001c0001t0004g0300 a0001c0001t0004g0305 a0001c0001t0004g0306 a0001c0001t0010g0295 a0001c0001t0010g0303 a0001c0001t0012g0294	29	294	0.0986	-38	c.-1+ others(55): Show c.-1+17884_-1+17921delTATATATATATATATATATATATATACA CACACATATA	GABPB1	ENSG00000104064.18	transcript	ENST00000380877.8	protein_coding	1/8			chr15	TogoVar
GABRB1_chr4_47026567_47431447	47246299	TACACACA others(31): Show TACACACACACACACACACACACACACACACATATGTAC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02970.hp1 NA18906.hp2 HG02258.hp2 HG02970.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0005 a0001c0003t0008 a0001c0001t0004 a0001c0003t0005 a0001c0003t0008	a0001c0001t0004g0096 a0001c0003t0005g0097 a0001c0003t0008g0098 a0001c0001t0004g0096 a0001c0003t0005g0097 a0001c0003t0008g0098	3	109	0.0275	-38	c.462 others(57): Show c.462-73826_462-73789delCACACACACACACACACACACACACA CACATATGTACA	GABRB1	ENSG00000163288.14	transcript	ENST00000295454.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
GABRB1_chr4_47026567_47431447	47246321	CACACACA others(31): Show CACACACACATATGTACATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0127 a0001c0004t0003g0127	1	156	0.0064	-38	c.462 others(57): Show c.462-73804_462-73767delCACACACATATGTACATATATATATA TATATATATATA	GABRB1	ENSG00000163288.14	transcript	ENST00000295454.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
GABRB1_chr4_47026567_47431447	47246337	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0140 a0001c0002t0001g0140	1	17	0.0588	-38	c.462 others(57): Show c.462-73768_462-73731delTATATATATATATATATATATATATA TATATATATATA	GABRB1	ENSG00000163288.14	transcript	ENST00000295454.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
GABRB3_chr15_26538552_26778066	26764165	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0158 a0001c0001t0003g0158	1	190	0.0053	-38	c.240 others(55): Show c.240+8199_240+8236delATATATATATATATATATATATATTTTT TTTTTTTTTT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GABRD_chr1_2014345_2035758	2017367	CTTAAAAG others(31): Show CTTAAAAGAAAAAGAAGAAAATTGAATGTTAATTTTATG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0010 a0001c0002t0001g0010	1	362	0.0028	-38	c.-20 others(49): Show c.-2056_-2019delTTAAAAGAAAAAGAAGAAAATTGAATGTTAATTT TATG	GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding		1977		chr1	TogoVar
GAD1_chr2_170811887_170866151	170828043	ATCCTCAC others(31): Show ATCCTCACCCCTCCTCCTTCTGCTGTCCTCCCTCTGCTG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00408.hp2 others(150): Show HG00140.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01346.hp2 HG01433.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01943.hp2 HG01975.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03834.hp1 HG03927.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18957.hp2 NA18961.hp1 NA18962.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18978.hp1 NA18978.hp2 NA18981.hp1 NA18984.hp1 NA18989.hp2 NA18994.hp2 NA18995.hp1 NA18998.hp2 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19009.hp1 NA19011.hp1 NA19043.hp1 NA19057.hp1 NA19060.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp2 NA19070.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0008	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0002c0005 a0006c0010 a0008c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0015 a0001c0002t0001 a0001c0002t0006 a0002c0003t0001 a0002c0003t0005 a0002c0003t0013 a0002c0003t0014 a0002c0005t0005 a0006c0010t0003 a0008c0009t0003	a0001c0001t0001g0031 a0001c0001t0001g0070 a0001c0001t0001g0080 others(137): Show a0001c0001t0001g0031 a0001c0001t0001g0070 a0001c0001t0001g0080 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0001g0173 a0001c0001t0001g0183 a0001c0001t0001g0208 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0225 a0001c0001t0001g0233 a0001c0001t0001g0261 a0001c0001t0001g0275 a0001c0001t0001g0290 a0001c0001t0001g0304 a0001c0001t0001g0319 a0001c0001t0001g0321 a0001c0001t0001g0325 a0001c0001t0001g0333 a0001c0001t0001g0342 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0350 a0001c0001t0001g0353 a0001c0001t0001g0361 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0127 a0001c0001t0002g0134 a0001c0001t0002g0174 a0001c0001t0002g0213 a0001c0001t0002g0277 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0351 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0030 a0001c0001t0003g0215 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0247 a0001c0001t0003g0279 a0001c0001t0003g0283 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0003g0289 a0001c0001t0003g0292 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0299 a0001c0001t0003g0300 a0001c0001t0003g0302 a0001c0001t0003g0305 a0001c0001t0003g0307 a0001c0001t0003g0308 a0001c0001t0003g0310 a0001c0001t0003g0312 a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0003g0322 a0001c0001t0003g0334 a0001c0001t0003g0338 a0001c0001t0003g0339 a0001c0001t0003g0340 a0001c0001t0003g0341 a0001c0001t0003g0344 a0001c0001t0003g0345 a0001c0001t0003g0352 a0001c0001t0003g0356 a0001c0001t0003g0357 a0001c0001t0003g0358 a0001c0001t0003g0359 a0001c0001t0003g0370 a0001c0001t0004g0175 a0001c0001t0004g0210 a0001c0001t0004g0278 a0001c0001t0004g0281 a0001c0001t0004g0324 a0001c0001t0004g0362 a0001c0001t0006g0343 a0001c0001t0008g0313 a0001c0001t0011g0248 a0001c0001t0015g0320 a0001c0002t0001g0016 a0001c0002t0001g0056 a0001c0002t0001g0076 a0001c0002t0001g0109 a0001c0002t0001g0112 a0001c0002t0001g0118 a0001c0002t0001g0142 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0150 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0167 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0231 a0001c0002t0006g0190 a0002c0003t0001g0005 a0002c0003t0001g0032 a0002c0003t0001g0251 a0002c0003t0001g0317 a0002c0003t0001g0323 a0002c0003t0001g0336 a0002c0003t0001g0337 a0002c0003t0001g0349 a0002c0003t0001g0354 a0002c0003t0001g0360 a0002c0003t0001g0364 a0002c0003t0005g0303 a0002c0003t0013g0212 a0002c0003t0014g0365 a0002c0005t0005g0011 a0002c0005t0005g0168 a0002c0005t0005g0169 a0002c0005t0005g0170 a0002c0005t0005g0187 a0006c0010t0003g0309 a0008c0009t0003g0250	153	410	0.3732	-38	c.146 others(55): Show c.146-1384_146-1347delCTCCTCCTTCTGCTGTCCTCCCTCTGCT GTCCTCACCC	GAD1	ENSG00000128683.14	transcript	ENST00000358196.8	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805186	GCCAGGGA others(31): Show GCCAGGGACGTCTGCAGGCCACCTTCCCTCCCCCTCAAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00280.hp2 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0187 a0001c0001t0001g0188	2	310	0.0065	-38	c.10 others(49): Show c.1021_*1058delCCAGGGACGTCTGCAGGCCACCTTCCCTCCCCCT CAAC	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		900		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805195	GTCTGCAG others(31): Show GTCTGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0002 a0002c0014t0002	a0002c0014t0002g0014 a0002c0014t0002g0014	1	298	0.0034	-38	c.10 others(49): Show c.1030_*1067delTCTGCAGGCCACCTTCCCTCCCCCTCAACCCAGG GACC	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		909		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805198	TGCAGGCC others(31): Show TGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02735.hp1 HG02071.hp1 HG02735.hp1	a0003 a0010 a0003 a0010	a0003c0003 a0010c0013 a0003c0003 a0010c0013	a0003c0003t0001 a0010c0013t0002 a0003c0003t0001 a0010c0013t0002	a0003c0003t0001g0145 a0010c0013t0002g0115 a0003c0003t0001g0145 a0010c0013t0002g0115	2	281	0.0071	-38	c.10 others(49): Show c.1033_*1070delGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGAC CTCC	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		912		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806386	CCCCCCTC others(31): Show CCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	309	0.0032	-38	c.22 others(49): Show c.2221_*2258delCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCT CCCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2100		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807993	GGGACCTC others(31): Show GGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0152	1	312	0.0032	-38	c.38 others(49): Show c.3828_*3865delGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAG CCCA	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3707		chr2	TogoVar
GALNT11_chr7_152020674_152127340	152113681	CTCTATTG others(31): Show CTCTATTGTGACGCCTGCAAAAGTTGGCTTTCTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA19030.hp2 HG02922.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0258 a0001c0001t0005g0259 a0001c0001t0005g0258 a0001c0001t0005g0259	2	280	0.0071	-38	c.123 others(55): Show c.1233+285_1233+322delCTATTGTGACGCCTGCAAAAGTTGGCTT TCTTTTTTTT	GALNT11	ENSG00000178234.13	transcript	ENST00000430044.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT13_chr2_153866922_154458979	154110310	TATATATA others(31): Show TATATATATATATATATATATATATATAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0206 a0001c0001t0004g0206	1	207	0.0048	-38	c.143 others(57): Show c.143-30025_143-29988delTATATATATATATATATATATATATA GAGAGAGAGAGA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154110312	TATATATA others(31): Show TATATATATATATATATATATATATAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18944.hp2 NA18612.hp1 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0004 a0001c0001t0010	a0001c0001t0004g0193 a0001c0001t0010g0191 a0001c0001t0004g0193 a0001c0001t0010g0191	2	203	0.0099	-38	c.143 others(57): Show c.143-30023_143-29986delTATATATATATATATATATATATAGA GAGAGAGAGAGA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154133534	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02896.hp2 HG02738.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0031 a0001c0001t0030 a0001c0001t0031	a0001c0001t0030g0073 a0001c0001t0031g0089 a0001c0001t0030g0073 a0001c0001t0031g0089	2	57	0.0351	-38	c.143 others(55): Show c.143-6789_143-6752delATATATATATATATATATATATATATAT ATATATATAT	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT14_chr2_30905467_31143440	30918644	GGGCAGGG others(31): Show GGGCAGGGAGGATGGCATCGGGCAGGGAGGGTGGCATCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00438.hp1 others(12): Show HG00099.hp2 HG00323.hp1 HG00438.hp1 HG01175.hp2 HG01361.hp2 HG01928.hp2 HG02004.hp2 HG02486.hp1 HG02735.hp2 HG03139.hp1 HG03225.hp1 HG03490.hp2 HG03492.hp2 HG03654.hp1 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0002c0010	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(6): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0002t0009 a0002c0003t0001 a0002c0004t0001 a0002c0004t0002 a0002c0010t0001	a0001c0001t0001g0023 a0001c0001t0001g0123 a0001c0001t0001g0129 others(12): Show a0001c0001t0001g0023 a0001c0001t0001g0123 a0001c0001t0001g0129 a0001c0001t0001g0174 a0001c0002t0001g0039 a0001c0002t0002g0193 a0001c0002t0002g0211 a0001c0002t0008g0141 a0001c0002t0009g0112 a0002c0003t0001g0150 a0002c0004t0001g0028 a0002c0004t0001g0169 a0002c0004t0002g0220 a0002c0010t0001g0075 a0002c0010t0001g0076	15	224	0.0670	-38	c.138 others(57): Show c.1380+5437_1380+5474delTGATGCCACCCTCCCTGCCCGATGCC ATCCTCCCTGCC	GALNT14	ENSG00000158089.15	transcript	ENST00000349752.10	protein_coding	13/14			chr2	TogoVar
GALNT15_chr3_16169680_16235165	16232478	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATTTATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01074.hp1 others(1): Show HG01070.hp2 HG01071.hp1 HG01074.hp1 HG03710.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0003 a0003c0005t0003g0003	4	386	0.0104	-38	c.49 others(49): Show c.4979_*5016delTATATATATATATATATATATATATATATATATT TATT	GALNT15	ENSG00000131386.20	transcript	ENST00000339732.10	protein_coding		2314		chr3	TogoVar
GALNT16_chr14_69255158_69359466	69322964	GTGTGTGT others(31): Show GTGTGTGTGTGTGTGTGTGCGCGCGCACGCGCGCACGCA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00621.hp2 HG00673.hp2 others(36): Show HG00438.hp1 HG00621.hp2 HG00673.hp2 HG00733.hp2 HG01074.hp1 HG01106.hp1 HG01891.hp1 HG01891.hp2 HG02015.hp1 HG02015.hp2 HG02132.hp2 HG02165.hp1 HG02630.hp2 HG02647.hp1 HG02809.hp2 HG02818.hp2 HG03098.hp1 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 NA18941.hp1 NA18944.hp2 NA18948.hp1 NA18955.hp2 NA18968.hp2 NA18975.hp1 NA18982.hp2 NA18986.hp1 NA18989.hp1 NA18995.hp1 NA19007.hp1 NA19010.hp2 NA19043.hp1 NA19056.hp1 NA19068.hp1 NA19085.hp2 NA19087.hp1	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0001 a0001c0003 a0003c0004 others(1): Show a0001c0001 a0001c0003 a0003c0004 a0009c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0012 a0001c0001t0018 a0001c0001t0021 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0003c0004t0002 a0009c0012t0001	a0001c0001t0001g0074 a0001c0001t0001g0083 a0001c0001t0001g0101 others(35): Show a0001c0001t0001g0074 a0001c0001t0001g0083 a0001c0001t0001g0101 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0153 a0001c0001t0001g0282 a0001c0001t0002g0073 a0001c0001t0002g0076 a0001c0001t0002g0085 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0288 a0001c0001t0003g0161 a0001c0001t0004g0003 a0001c0001t0005g0133 a0001c0001t0008g0128 a0001c0001t0012g0022 a0001c0001t0018g0134 a0001c0001t0021g0075 a0001c0003t0001g0163 a0001c0003t0002g0108 a0001c0003t0003g0098 a0001c0003t0003g0103 a0001c0003t0003g0113 a0001c0003t0003g0122 a0001c0003t0003g0157 a0001c0003t0003g0221 a0001c0003t0003g0224 a0003c0004t0002g0027 a0009c0012t0001g0119	39	302	0.1291	-38	c.336 others(55): Show c.336-1725_336-1688delTGTGTGTGTGTGTGTGCGCGCGCACGCG CGCACGCATG	GALNT16	ENSG00000100626.17	transcript	ENST00000448469.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
GALNT17_chr7_71127144_71718599	71336007	CCTTCTTC others(31): Show CCTTCTTCTTCCTTCTTCTTTCTTCCTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 NA18983.hp2 HG00738.hp2 NA18983.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0003t0014 a0001c0002t0003 a0001c0003t0014	a0001c0002t0003g0004 a0001c0003t0014g0068 a0001c0002t0003g0004 a0001c0003t0014g0068	2	36	0.0556	-38	c.422 others(53): Show c.422+275_422+312delCTTCTTCTTCCTTCTTCTTTCTTCCTTTTT TTTTTTTT	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	2/10			chr7	TogoVar
GALNT17_chr7_71127144_71718599	71701790	TATGTGTG others(31): Show TATGTGTGTGTGTGTATATATATATACACATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp1 HG00735.hp2 others(12): Show HG00323.hp1 HG00642.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01106.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01433.hp2 HG02717.hp2 HG03492.hp2 HG03669.hp1 NA20129.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0002c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0002t0003 a0001c0003t0002 a0001c0004t0003 a0001c0004t0005 a0001c0008t0003 a0002c0010t0003	a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0044 others(12): Show a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0044 a0001c0001t0002g0018 a0001c0001t0003g0001 a0001c0001t0003g0011 a0001c0001t0005g0050 a0001c0001t0005g0051 a0001c0002t0003g0004 a0001c0002t0003g0006 a0001c0003t0002g0067 a0001c0004t0003g0013 a0001c0004t0005g0058 a0001c0008t0003g0007 a0002c0010t0003g0009	15	76	0.1974	-38	c.150 others(57): Show c.1501-8969_1501-8932delTGTGTGTGTGTGTATATATATATACA CATATATATACA	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT2_chr1_230062238_230287122	230185267	TGCGTGCG others(31): Show TGCGTGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0093 a0001c0003t0006g0093	1	322	0.0031	-38	c.220 others(55): Show c.220+6962_220+6999delCGTGTGTGTGTGTGTGTGTGTGTGTGTG TGCGCGCGTG	GALNT2	ENSG00000143641.10	transcript	ENST00000366672.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
GALNT2_chr1_230062238_230287122	230198399	CAGCAGCC others(31): Show CAGCAGCCCAGGAGAGTACGAGGAGTGGCAGGGGCAGGA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02559.hp2 HG02818.hp2 HG02145.hp2 HG02559.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0036 a0001c0001t0049 a0001c0008t0012 a0001c0001t0036 a0001c0001t0049 a0001c0008t0012	a0001c0001t0036g0014 a0001c0001t0049g0286 a0001c0008t0012g0017 a0001c0001t0036g0014 a0001c0001t0049g0286 a0001c0008t0012g0017	3	319	0.0094	-38	c.221 others(55): Show c.221-4737_221-4700delAGCAGCCCAGGAGAGTACGAGGAGTGGC AGGGGCAGGA	GALNT2	ENSG00000143641.10	transcript	ENST00000366672.5	protein_coding	2/15			chr1	TogoVar
GALNT9_chr12_132191372_132334589	132192985	CTCGGTCG others(31): Show CTCGGTCGCGTCCGTCGGACTGGGGAGGTGCTCTGCGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	182	0.0055	-38	c.40 others(49): Show c.4084_*4121delCACGCAGAGCACCTCCCCAGTCCGACGGACGCGA CCGA	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding		3386		chr12	TogoVar
GALNT9_chr12_132191372_132334589	132235786	TTCAACCC others(31): Show TTCAACCCTCGGGACAGGGCAGGAGGGTCCCCCGGGCTG	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02809.hp2 HG02723.hp1 HG02809.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0078 a0001c0006t0001g0142 a0001c0006t0001g0078 a0001c0006t0001g0142	2	182	0.0110	-38	c.107 others(59): Show c.1077+12086_1077+12123delCAGCCCGGGGGACCCTCCTGCCCT GTCCCGAGGGTTGA	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GAMT_chr19_1392026_1406542	1400165	GGGGCAGG others(31): Show GGGGCAGGGCTGGAGAGGCTGCCAGGAGGAGGGGATGCA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01192.hp2 HG01515.hp2 others(16): Show HG01106.hp2 HG01192.hp2 HG01515.hp2 HG01517.hp1 HG01891.hp1 HG01891.hp2 HG02280.hp1 HG02922.hp2 HG02970.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03471.hp2 HG03540.hp2 HG03579.hp2 NA18906.hp1 NA19043.hp1 NA19240.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0018 a0001c0001t0001g0026 others(2): Show a0001c0001t0001g0005 a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0045 a0001c0001t0001g0046	19	400	0.0475	-38	c.182 others(53): Show c.182-265_182-228delTGCATCCCCTCCTCCTGGCAGCCTCTCCAG CCCTGCCC	GAMT	ENSG00000130005.13	transcript	ENST00000252288.8	protein_coding	1/5			chr19	TogoVar
GAPDHS_chr19_35528456_35550319	35533880	TGAAAGTG others(31): Show TGAAAGTGGCGGGAAGTGGGCGGGCTTAGGAGGGGCTTA	T T	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	426	0.0023	-38	c.67+ others(51): Show c.67+288_67+325delAAAGTGGCGGGAAGTGGGCGGGCTTAGGAGGG GCTTAG	GAPDHS	ENSG00000105679.9	transcript	ENST00000222286.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
GAPVD1_chr9_125256826_125372207	125293852	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	211	0.0047	-38	c.-14 others(57): Show c.-149-1591_-149-1554delTATATATATATATATATATATATATA TATATATATATA	GAPVD1	ENSG00000165219.23	transcript	ENST00000297933.11	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
GAPVD1_chr9_125256826_125372207	125300038	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0127 a0001c0003t0006g0127	1	244	0.0041	-38	c.185 others(53): Show c.185+951_185+988delATATATATATATATATATATATATATATAT ATATATAT	GAPVD1	ENSG00000165219.23	transcript	ENST00000297933.11	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
GARIN5A_chr19_50461788_50481848	50467402	CCTCCCTC others(31): Show CCTCCCTCAGACCCAGGAGTCCAGGACCCCAGCCCTCAT	C C	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0161 a0005c0009t0001g0161	1	412	0.0024	-38	c.3+ others(51): Show c.3+182_*3+219delATGAGGGCTGGGGTCCTGGACTCCTGGGTCTG AGGGAG	GARIN5A	ENSG00000142530.11	transcript	ENST00000600100.6	protein_coding	4/4			chr19	TogoVar
GARIN5B_chr19_55349908_55368260	55361830	TCCCTCAG others(31): Show TCCCTCAGACCCAGGAGAGTTCAGACTGCCAGCCCTTCA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00323.hp2 others(96): Show HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01109.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp1 HG01261.hp2 HG01346.hp1 HG01496.hp2 HG01943.hp2 HG01975.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02155.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02970.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03239.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 NA18906.hp1 NA18940.hp1 NA18944.hp1 NA18946.hp2 NA18960.hp2 NA18962.hp2 NA18992.hp1 NA18998.hp2 NA19004.hp1 NA19007.hp2 NA19010.hp1 NA19030.hp1 NA19054.hp1 NA19054.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp2 NA19077.hp1 NA19080.hp2 NA19240.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2	a0001 a0005 a0007 others(6): Show a0001 a0005 a0007 a0008 a0012 a0019 a0021 a0031 a0034	a0001c0001 a0001c0014 a0001c0028 others(8): Show a0001c0001 a0001c0014 a0001c0028 a0005c0006 a0007c0008 a0008c0010 a0012c0011 a0019c0019 a0021c0022 a0031c0021 a0034c0042	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0014t0001 a0001c0028t0001 a0005c0006t0001 a0005c0006t0002 a0007c0008t0002 a0007c0008t0003 a0008c0010t0001 a0012c0011t0001 a0019c0019t0002 a0021c0022t0001 a0031c0021t0001 a0034c0042t0001	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0014 others(27): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0002g0004 a0001c0001t0002g0054 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0064 a0001c0001t0002g0095 a0001c0001t0003g0061 a0001c0001t0005g0042 a0001c0014t0001g0057 a0001c0028t0001g0049 a0005c0006t0001g0010 a0005c0006t0002g0013 a0007c0008t0002g0029 a0007c0008t0002g0030 a0007c0008t0003g0097 a0007c0008t0003g0098 a0008c0010t0001g0108 a0012c0011t0001g0019 a0012c0011t0001g0048 a0019c0019t0002g0047 a0021c0022t0001g0056 a0031c0021t0001g0055 a0034c0042t0001g0133	99	354	0.2797	-38	c.564 others(53): Show c.564+377_565-397delTGAAGGGCTGGCAGTCTGAACTCTCCTGGG TCTGAGGG	GARIN5B	ENSG00000180043.11	transcript	ENST00000424985.3	protein_coding	3/10			chr19	TogoVar
GAS6_chr13_113815549_113869076	113831721	AGAGCATG others(31): Show AGAGCATGAACTAAACGGGGCAGGGGTCCCCGTCCCCCG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp1 HG00639.hp2 others(15): Show HG00280.hp2 HG00639.hp1 HG00639.hp2 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01099.hp2 HG02293.hp1 HG02922.hp2 HG03098.hp1 HG03195.hp1 HG03453.hp2 HG03492.hp1 HG04204.hp2 NA18612.hp2 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0006t0001	a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0019 others(14): Show a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0051 a0001c0001t0001g0093 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0130 a0001c0001t0004g0141 a0001c0001t0004g0142 a0001c0002t0001g0131 a0001c0002t0002g0001 a0001c0006t0001g0059 a0001c0006t0001g0080	18	92	0.1957	-38	c.114 others(55): Show c.1143+540_1143+577delCGGGGGACGGGGACCCCTGCCCCGTTTA GTTCATGCTC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	10/14			chr13	TogoVar
GCGR_chr17_81799150_81819008	81818737	CATAGTGA others(31): Show CATAGTGACTTGTGTGTGCACGCCAACACTACACGGCAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG03098.hp1 HG06807.hp2 others(1): Show HG02055.hp2 HG03098.hp1 HG06807.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0001 a0001c0016t0001 a0001c0001t0001 a0001c0016t0001	a0001c0001t0001g0039 a0001c0001t0001g0100 a0001c0001t0001g0101 others(1): Show a0001c0001t0001g0039 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0016t0001g0061	4	270	0.0148	-38	c.50 others(49): Show c.5049_*5086delATAGTGACTTGTGTGTGCACGCCAACACTACACG GCAG	GCGR	ENSG00000215644.10	transcript	ENST00000400723.8	protein_coding		4730		chr17	TogoVar
GCH1_chr14_54837017_54907826	54880441	TATACTCC others(31): Show TATACTCCATATAAATATATACTCCATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00642.hp2 others(55): Show HG00408.hp2 HG00423.hp1 HG00642.hp2 HG00738.hp1 HG01168.hp1 HG01169.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01433.hp2 HG01516.hp2 HG01975.hp1 HG02015.hp1 HG02015.hp2 HG02056.hp1 HG02071.hp2 HG02083.hp1 HG02129.hp1 HG02155.hp2 HG02165.hp1 HG02300.hp1 HG02523.hp1 HG02602.hp1 HG02735.hp2 HG03017.hp2 HG03239.hp1 HG03669.hp1 HG03831.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 NA18612.hp1 NA18941.hp1 NA18943.hp1 NA18947.hp1 NA18949.hp1 NA18951.hp1 NA18960.hp1 NA18961.hp2 NA18971.hp2 NA18977.hp1 NA18986.hp2 NA18990.hp2 NA19000.hp2 NA19002.hp2 NA19009.hp1 NA19043.hp2 NA19062.hp2 NA19086.hp1 NA19089.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0013 a0001c0001t0014 a0001c0001t0025 a0001c0001t0026	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0113 others(50): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0113 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0272 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0002g0009 a0001c0001t0002g0103 a0001c0001t0002g0181 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0258 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0271 a0001c0001t0002g0273 a0001c0001t0008g0287 a0001c0001t0008g0288 a0001c0001t0008g0289 a0001c0001t0013g0007 a0001c0001t0013g0008 a0001c0001t0014g0184 a0001c0001t0014g0191 a0001c0001t0025g0266 a0001c0001t0026g0284	58	344	0.1686	-38	c.344 others(57): Show c.344-15043_344-15006delGTATATATATATATGGAGTATATATT TATATGGAGTAT	GCH1	ENSG00000131979.20	transcript	ENST00000491895.7	protein_coding	1/5			chr14	TogoVar
GCSAML_chr1_247544134_247582690	247551563	ACAATAAG others(31): Show ACAATAAGCTCTTAAAATATACCAAAGAAGATGCAGGGG	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	410	0.0024	-38	c.29+ others(53): Show c.29+2347_29+2384delTAAGCTCTTAAAATATACCAAAGAAGATGC AGGGGCAA	GCSAML	ENSG00000169224.13	transcript	ENST00000366488.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
GEN1_chr2_17749138_17793946	17778419	TGTACATA others(31): Show TGTACATATATGTATATACACACACATATATGTGTGTAC	T T	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG06807.hp2 HG01934.hp1 HG06807.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0052 a0003c0003t0003g0096 a0003c0003t0003g0052 a0003c0003t0003g0096	2	318	0.0063	-38	c.126 others(55): Show c.1264+357_1264+394delGTACATATATGTATATACACACACATAT ATGTGTGTAC	GEN1	ENSG00000178295.15	transcript	ENST00000381254.7	protein_coding	12/13			chr2	TogoVar
GGA3_chr17_75231599_75266606	75253403	ATCATTGC others(31): Show ATCATTGCAGGGACACCTCTCTGATTATTCACTCACGTT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	362	0.0028	-38	c.41- others(53): Show c.41-6645_41-6608delAACGTGAGTGAATAATCAGAGAGGTGTCCC TGCAATGA	GGA3	ENSG00000125447.18	transcript	ENST00000537686.6	protein_coding	1/16			chr17	TogoVar
GIGYF2_chr2_232692331_232865605	232836329	TACATATA others(31): Show TACATATATATACTTATATATTTATATATATAAATATAA	T T	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0147 a0001c0001t0013g0147	1	358	0.0028	-38	c.276 others(57): Show c.2766+3238_2766+3275delCATATATATACTTATATATTTATATA TATAAATATAAA	GIGYF2	ENSG00000204120.16	transcript	ENST00000373563.9	protein_coding	22/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
GINM1_chr6_149561375_149596748	149570134	TTTTATAT others(31): Show TTTTATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA18949.hp1 NA19030.hp1 others(1): Show HG03453.hp1 NA18949.hp1 NA19030.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0003g0085 others(1): Show a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0003g0085 a0001c0001t0003g0086	4	337	0.0119	-38	c.121 others(55): Show c.121-2149_121-2112delTTATATATATATATATATATATATATAT ATATATATAT	GINM1	ENSG00000055211.14	transcript	ENST00000367419.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
GIPC3_chr19_3580478_3598541	3580950	TTGTTTTT others(31): Show TTGTTTTTGTTTATTTTTTATTTTTTAGGGGTTGGGGGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	428	0.0023	-38	c.-46 others(49): Show c.-4647_-4610delTGTTTTTGTTTATTTTTTATTTTTTAGGGGTTGG GGGG	GIPC3	ENSG00000179855.9	transcript	ENST00000644452.3	protein_coding		4527		chr19	TogoVar
GK_chrX_30648423_30736462	30662829	CTCTCTTT others(31): Show CTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0164 a0001c0001t0010g0164	1	274	0.0036	-38	c.79- others(53): Show c.79-2654_79-2617delCTTTCTTTCTTTCTCTTTCTTTCTTTCTTT CTTTCTTT	GK	ENSG00000198814.14	transcript	ENST00000427190.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar

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